干扰基体蛋白POC1B导致常染色体隐性遗传锥杆细胞营养不良

发布时间：2018-04-18 17:17

  本文选题：POCB + 视网膜色素上皮　； 参考：《中国病理生理杂志》2014年10期

【摘要】：正外显子组测序发现一种在POC1B纯合子编码POC1中心粒蛋白B的错义突变(c.317CG[p.Arg106Pro]),存在于常染色体隐性遗传锥细胞营养不良或锥杆细胞营养不良的3名同胞,以及与他们不相关的、伴有复合性杂合POC1B突变(c.199_201del[p.Gln67del]和c.810+1GT)的1名锥杆细胞营养不良患者中。通过POC1B在人类端粒酶永生化视网膜色素上皮
[Abstract]:A missense mutation encoding POC1 centroid B in POC1B homozygous gene encoding POC1 centroid protein B was identified by positive exon sequencing. C. 317CG [p.Arg106Pro] was found in three siblings with autosomal recessive pyramidal dystrophy or pyramidal dystrophy, and with which they were not associated.One patient with cone-cell dystrophy with complex heterozygous POC1B mutation c.199s 201del [p.Gln67del] and c.8101 GTs.Application of POC1B in human telomerase immortalized retinal pigment epithelium
【分类号】：R774.1
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本文编号：1769315